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Items: 1 to 20 of 95

1.

Genetic screening in the Persian Jewish community: A pilot study.

Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL.

Genet Med. 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b.

PMID:
20733503
2.

Hereditary disorders among Iranian Jews.

Zlotogora J.

Am J Med Genet. 1995 Jul 31;58(1):32-7.

PMID:
7573153
3.
4.

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

Reish O, Borochowitz ZU, Adir V, Shohat M, Karpati M, Shtorch A, Orr-Urtreger A, Yaron Y, Shalev S, Fares F, Gershoni-Baruch R, Falik-Zaccai TC, Chapman-Shimshoni D.

Genet Med. 2009 Feb;11(2):101-3. doi: 10.1097/GIM.0b013e31818efd59.

PMID:
19265749
6.

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S.

Nat Genet. 2001 Sep;29(1):83-7.

PMID:
11528398
7.
8.

Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.

Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S.

Neurology. 2003 May 13;60(9):1519-23.

PMID:
12743242
9.

Polyglandular autoimmune syndrome type I among Iranian Jews.

Zlotogora J, Shapiro MS.

J Med Genet. 1992 Nov;29(11):824-6.

10.

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.

Zuckerman S, Lahad A, Shmueli A, Zimran A, Peleg L, Orr-Urtreger A, Levy-Lahad E, Sagi M.

JAMA. 2007 Sep 19;298(11):1281-90.

PMID:
17878420
11.
12.

Tay-Sachs disease screening and counseling families at risk for metabolic disease.

Sutton VR.

Obstet Gynecol Clin North Am. 2002 Jun;29(2):287-96. Review.

PMID:
12108829
13.

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA.

Am J Hum Genet. 2002 Dec;71(6):1395-412. Epub 2002 Nov 26.

14.
15.

Fine-structure mapping of the hereditary inclusion body myopathy locus.

Eisenberg I, Thiel C, Levi T, Tiram E, Argov Z, Sadeh M, Jackson CL, Thierfelder L, Mitrani-Rosenbaum S.

Genomics. 1999 Jan 1;55(1):43-8.

PMID:
9888997
16.

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.

Leshinsky-Silver E, Argov Z, Rozenboim L, Cohen S, Tzofi Z, Cohen Y, Wirguin Y, Dabby R, Lev D, Sadeh M.

Neuromuscul Disord. 2007 Dec;17(11-12):950-4. Epub 2007 Sep 6.

PMID:
17825554
17.

Prenatal genetic screening in the Ashkenazi Jewish population.

Zinberg RE, Kornreich R, Edelmann L, Desnick RJ.

Clin Perinatol. 2001 Jun;28(2):367-82. Review.

PMID:
11499058
18.

One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews.

Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T, Stern C, Weiss E, Seligsohn U.

Blood. 1995 Jan 15;85(2):429-32.

19.

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.

Roa BB, Boyd AA, Volcik K, Richards CS.

Nat Genet. 1996 Oct;14(2):185-7.

PMID:
8841191
20.

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A.

Am J Hum Genet. 1994 Aug;55(2):287-8.

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